Canonical Allele Identifier: CA1076928

Gene: TARS2

Linked Data

• ClinVar Variation Id: 516719
• ClinVar RCV Id: RCV003980187
• dbSNP Id: rs141179905
• ExAC: 1:150470145 C / T
• gnomAD v2: 1-150470145-C-T
• gnomAD v3: 1-150497669-C-T
• gnomAD v4: 1-150497669-C-T
• MyVariant Identifiers: chr1:g.150470145C>T (hg19) ; chr1:g.150497669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150497669C>T , CM000663.2:g.150497669C>T	GRCh38
NC_000001.10:g.150470145C>T , CM000663.1:g.150470145C>T	GRCh37
NC_000001.9:g.148736769C>T	NCBI36
NG_034226.1:g.15306C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369064.8:c.1160C>T MANE Select	ENSP00000358060.3:p.Pro387Leu
ENST00000369051.7:c.*151C>T	ENSP00000358047.3:n.*151C>T
ENST00000369054.6:c.770C>T	ENSP00000358050.2:p.Pro257Leu
ENST00000369064.7:c.1160C>T	ENSP00000358060.3:p.Pro387Leu
ENST00000438568.6:c.335C>T	ENSP00000415002.3:p.Pro112Leu
ENST00000463555.1:n.293C>T
ENST00000467982.6:c.817+761C>T	ENSP00000475551.1:n.817+761C>T
ENST00000480070.5:n.273C>T
ENST00000606933.5:c.914C>T	ENSP00000475847.1:p.Pro305Leu
NM_001271895.1:c.914C>T	NP_001258824.1:p.Pro305Leu
NM_001271896.1:c.770C>T	NP_001258825.1:p.Pro257Leu
NM_025150.4:c.1160C>T	NP_079426.2:p.Pro387Leu
NR_073513.1:n.646C>T
NR_073514.1:n.1122C>T
XM_006711555.1:c.1160C>T	XP_006711618.1:p.Pro387Leu
XM_006711556.1:c.1013C>T	XP_006711619.1:p.Pro338Leu
XM_011510009.1:c.1061C>T	XP_011508311.1:p.Pro354Leu
XM_006711555.2:c.1160C>T	XP_006711618.1:p.Pro387Leu
XM_017002394.2:c.1013C>T	XP_016857883.1:p.Pro338Leu
XM_017002395.2:c.914C>T	XP_016857884.1:p.Pro305Leu
NM_025150.5:c.1160C>T MANE Select	NP_079426.2:p.Pro387Leu
NM_001271895.2:c.914C>T	NP_001258824.1:p.Pro305Leu
NM_001271896.2:c.770C>T	NP_001258825.1:p.Pro257Leu
NR_073513.2:n.591C>T
NR_073514.2:n.1067C>T